I'm 26 with BC and BRCA neg, but mom and sister is BRCA pos

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shiramg
shiramg Member Posts: 186
edited June 2014 in Genetic Testing
I'm 26 with BC and BRCA neg, but mom and sister is BRCA pos
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  • shiramg
    shiramg Member Posts: 186
    edited September 2010

    How is it possible that my mom who is 62 has never had cancer and is BRCA2 positive, and I'm BRCA negative and got breast cancer this year at age 26?  My younger sister just tested positive.  I got tested with sequencing, BART test, AND another confirmation test with sequencing.  So i think i am reassured that I do not have the mutation.

     I just think this situation is so strange.  Anyone else out there with a similar story?

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  • nancyluvspink
    nancyluvspink Member Posts: 102
    edited October 2010

    So sorry you are going through all of this.  You are way too young.  I thought I was young when I was told I had BC, I was 35.  I am BRCA1.  I don't understand why you dont have the gene.  Seems strange.  I would think that others will comment who are also negative for BRCA genes.  It looks like you caught your bc very early.  Thats Great!  Go through your treatment and you will be fine.  (((((HUGS))))))))

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  • nancyluvspink
    nancyluvspink Member Posts: 102
    edited October 2010

    So sorry you are going through all of this.  You are way too young.  I thought I was young when I was told I had BC, I was 35.  I am BRCA1.  I don't understand why you dont have the gene.  Seems strange.  I would think that others will comment who are also negative for BRCA genes.  It looks like you caught your bc very early.  Thats Great!  Go through your treatment and you will be fine.  (((((HUGS))))))))

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  • LISAMG
    LISAMG Member Posts: 639
    edited October 2010

    I think you should definitely re-test, I would not be re-assured of no mutation detected at this point. I would also speak with the gentics department at Myriad re: your test results/implications since this seems to require further investigation.

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  • TiffanyF4
    TiffanyF4 Member Posts: 171
    edited October 2010

    Well I am BRCA1 positive but to the best of my knowledge my genetist explained to me that just because research has allowed them to single out the BRCA1 and BRCA2 gene mutation does not mean that there aren't other mutations of the gene that have not yet been recognized.  I believe you ARE in fact a genetic BC survivor they just haven't pin pointed that gene yet. Let's keep praying for good research and more answers to this disease!

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  • shiramg
    shiramg Member Posts: 186
    edited October 2010

    i retested 4 times - my mother and sister tested for specifically the auschkenaz jew gene (brca 2).  i had a lumpctomy and told myseld i'd opt for the mastectomy if i was brca poritive but now i am unsure...

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  • Mutd
    Mutd Member Posts: 148
    edited October 2010

    It is a tough story :( What does your Genetic Counselor think, Shiramg? A few % of familial cancers are not BRCA (there are several additional br ca risk genes, but their mutations are too rare to even think about testing in all but the most unusual of situations). And your cancer is very unusual by many standards. Too early for BRCA2, but ER/PR+ is not what one would expect from BRCA1. The good news may be that if it isn't BRACA, then there may be no reason to worry about ovarian cancer in addition to br ca.

    A GC would probably look for cancer history on the father's side of your family, and stop if there isn't anything extreme there. But sometimes there is very little one can learn about the family history, as the families may be small and scattered and decimated by the Holocaust too...

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  • shadow2356
    shadow2356 Member Posts: 393
    edited October 2010

    Interesting that you are testing BRCA-. Mine is similar. My Grandmother had BC. My mother died of it at 44. I got diagnosed at 44. My cousin (mom's side) also had very early BC. My cousin tested BRCA2+. I got tested and it was negative. My doctors said my tumor markers suggest a hereditary cancer as does my history. They feel it is mutation they can not yet test for. They suggest testing again in a few years when they can test for more things. They also said to treat it as if it is positive. I have 2 sisters and a 2 year old daughter.

    I am now trying to decide if I should have my ovaries removed. The chemo has made me menapausal anyway. Not sure what to do so I know how you feel.

    Good luck!!!!!!

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  • Latte
    Latte Member Posts: 1,072
    edited December 2010

    Mutd - I am BRCA1+ and also ER/PR+. I hadn't realized that this is a rare combination.

    Shiramg - i don't know if this helps you, but I decided to have a lumpectomy even though I am BRCA1+. I couldn't decide under pressure whether to have a BMX, so I just dealt with the cancer at this point, and may decide to do BMX in a year or 2. In the meantime, after I finish tx, I will have a mammo/US and MRI every 6 months to keep an eye on me.

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